Catel Manzke syndrome

Summary
Synonym
  • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
  • Micrognathia digital syndrome
Definition
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Super Class
bone disease
Disease Ontology
DOID:0081122
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23483 TGDS TDP-glucose 4,6-dehydratase
The Human Phenotype Ontology
Displaying entries 61 - 63 of 63 in total
HPO ID HPO Term
HP:0010049 Short metacarpal
HP:0010763 Low insertion of columella
HP:0012385 Camptodactyly
Displaying 1 entry
Gene ID Gene Symbol Description
23483 TGDS TDP-glucose 4,6-dehydratase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024